Probe assembly for diagnosing ACTA2-MITF translocation perivascular epithelioid cell tumor and application thereof

The invention discloses a probe assembly for diagnosing ACTA2-MITF translocation perivascular epithelioid cell tumor and an application thereof. The probe assembly is formed by a BAC clone probe RP11-28G22 and a BAC clone probe RP11-963H1, wherein the BAC clone probe RP11-28G22 is located on one side of the centromere of ACTA2 and labeled with fluorescence of any color; the BAC clone probe RP11-963H1 is located on one side of the MITF telomere and labeled with fluorescence different from that labeled on the other side of the ACTA2 centromere. As the probe combination carry out in-situ hybridization on the basis of the paraffin-embedded tissue slice to detect the fusion and separation signals, the accuracy rate of diagnosis of such tumors can be greatly improved. 本发明公开了种用于诊断ACTA2-MITF易位性血管周上皮样细胞肿瘤的探针组合及其应用。该组合由BAC克隆探针RP11-28G22和BAC克隆探针RP11-963H1组成，BAC克隆探针RP11-28G22定位于ACTA2着丝粒侧，标记为任意种颜色的荧光；BAC克隆探针RP11-963H1定位于MITF端粒侧，标记为与ACTA2着丝粒侧标记的颜色不同的荧光。本发明探针组合，在石蜡包埋组织切片的基础上进行原位杂交，检测融合及分离信号，可大大提高诊断该类肿瘤的准确率。